JAK3 (Janus kinase 3) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: JAK3 (Janus kinase 3) Homo sapiens
Analyze
Symbol: JAK3
Name: Janus kinase 3
RGD ID: 737593
HGNC Page HGNC
Description: Enables protein phosphatase binding activity. Involved in interleukin-4-mediated signaling pathway. Predicted to be located in endosome and plasma membrane. Predicted to be active in cytosol. Implicated in T-cell acute lymphoblastic leukemia; T-cell prolymphocytic leukemia; acute megakaryocytic leukemia; adult T-cell leukemia; and juvenile myelomonocytic leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: JAK-3; JAK3_HUMAN; JAKL; Janus kinase 3 (a protein tyrosine kinase, leukocyte); L-JAK; leukocyte Janus kinase; LJAK; tyrosine-protein kinase JAK3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381917,824,782 - 17,847,982 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1917,824,780 - 17,848,071 (-)EnsemblGRCh38hg38GRCh38
GRCh371917,935,591 - 17,958,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,797,961 - 17,819,800 (-)NCBINCBI36hg18NCBI36
Build 341917,797,960 - 17,819,800NCBI
Celera1917,837,310 - 17,860,555 (-)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1917,500,992 - 17,524,212 (-)NCBIHuRef
CHM1_11917,935,132 - 17,958,532 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
Acute Lymphoblastic Leukemia, with Lymphomatous Features  (IAGP)
acute megakaryocytic leukemia  (IAGP,IMP)
adenoid cystic carcinoma  (IAGP)
adenosine deaminase deficiency  (IAGP)
adult T-cell leukemia  (IAGP)
amyotrophic lateral sclerosis type 1  (EXP)
B-cell lymphoma  (EXP)
Cd4+ Lymphocyte Deficiency  (IAGP)
cerebral malaria  (ISO)
Colonic Neoplasms  (ISO)
Edema  (ISO)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Graft vs Host Disease  (ISO)
hereditary spastic paraplegia  (IAGP)
Hydrops Fetalis  (IAGP)
Hyperalgesia  (ISO)
Hypoxia  (ISO)
janus kinase-3 deficiency  (IEA)
juvenile myelomonocytic leukemia  (EXP,IAGP)
Leukemoid Reaction  (IAGP)
lymphopenia  (IAGP)
Mediastinal Neoplasms  (EXP)
Muscle Hypotonia  (IAGP)
myeloproliferative neoplasm  (IAGP)
nasal type extranodal NK/T-cell lymphoma  (EXP)
NATURAL KILLER CELL ENTEROPATHY  (IAGP)
severe combined immunodeficiency  (EXP,IAGP,ISO)
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  (IAGP)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative  (IAGP)
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  (ISS)
T-cell acute lymphoblastic leukemia  (IMP)
T-Cell Lymphoma  (IMP)
T-cell prolymphocytic leukemia  (IAGP)
tongue squamous cell carcinoma  (ISO)
Trichiasis  (IAGP)
Viral Bronchiolitis  (HEP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive immune response  (IEA)
B cell differentiation  (IBA,ISS)
cell differentiation  (IBA)
cellular response to cytokine stimulus  (ISO)
cytokine-mediated signaling pathway  (IBA,IEA,ISO)
enzyme-linked receptor protein signaling pathway  (ISO,ISS)
erythrocyte differentiation  (IBA)
growth hormone receptor signaling pathway via JAK-STAT  (IBA,TAS)
immune system process  (IEA)
innate immune response  (IEA)
interleukin-2-mediated signaling pathway  (TAS)
interleukin-4-mediated signaling pathway  (IDA)
intracellular signal transduction  (IBA,IEA,ISO,ISS)
negative regulation of complement-dependent cytotoxicity  (ISO)
negative regulation of dendritic cell cytokine production  (ISS)
negative regulation of FasL production  (ISS)
negative regulation of interleukin-10 production  (ISS)
negative regulation of interleukin-12 production  (ISS)
negative regulation of T cell activation  (ISS)
negative regulation of T-helper 1 cell differentiation  (ISS)
negative regulation of thymocyte apoptotic process  (ISS)
peptidyl-tyrosine phosphorylation  (IEA,ISO,ISS)
phosphorylation  (IEA)
positive regulation of activated T cell proliferation  (IEA,ISO)
positive regulation of calcium ion transport  (IEA,ISO)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of dendritic cell apoptotic process  (ISO)
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  (ISO)
positive regulation of nitric-oxide synthase biosynthetic process  (IEA,ISO)
positive regulation of T cell proliferation  (IBA,IEA)
positive regulation of transcription by RNA polymerase II  (ISO)
protein phosphorylation  (IEA,TAS)
receptor signaling pathway via JAK-STAT  (IBA)
regulation of apoptotic process  (IBA)
regulation of receptor signaling pathway via JAK-STAT  (TAS)
regulation of T cell apoptotic process  (ISS)
response to interleukin-15  (TAS)
response to interleukin-2  (TAS)
response to interleukin-4  (IDA)
response to interleukin-9  (TAS)
T cell homeostasis  (IBA,ISS,TAS)
transcription by RNA polymerase II  (ISO)
tyrosine phosphorylation of STAT protein  (IBA,TAS)

Cellular Component
cytoplasm  (IEA,ISO)
cytoskeleton  (IEA)
cytosol  (IBA,TAS)
endomembrane system  (IEA)
endosome  (TAS)
membrane  (IEA)
plasma membrane  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormality of B cell physiology  (IAGP)
Abnormality of T cell physiology  (IAGP)
Absent natural killer cells  (IAGP)
Absent peripheral lymph nodes in presence of infection  (IAGP)
Acute megakaryocytic leukemia  (IAGP)
Acute otitis media  (IAGP)
Autosomal recessive inheritance  (IAGP)
B lymphocytopenia  (IAGP)
Chronic diarrhea  (IAGP)
Chronic oral candidiasis  (IAGP)
Cutaneous anergy  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased lymphocyte proliferation in response to anti-CD3  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Immunodeficiency  (IAGP)
Impaired lymphocyte transformation with phytohemagglutinin  (IAGP)
Infantile onset  (IAGP)
Intestinal obstruction  (IAGP)
Lack of T cell function  (IAGP)
Lymphopenia  (IAGP)
Meningitis  (IAGP)
Neonatal hypotonia  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Partial IgA deficiency  (IAGP)
Pneumonia  (IAGP)
Pustule  (IAGP)
Rectovaginal fistula  (IAGP)
Recurrent infection of the gastrointestinal tract  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent opportunistic infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Severe combined immunodeficiency  (IAGP)
Skin rash  (IAGP)
T lymphocytopenia  (IAGP)
Trichiasis  (IAGP)
References

References - curated
1. Ban SA, etal., J Clin Immunol. 2014 Nov;34(8):941-53. doi: 10.1007/s10875-014-0088-2. Epub 2014 Sep 10.
2. Bergmann AK, etal., Genes Chromosomes Cancer. 2014 Apr;53(4):309-16. doi: 10.1002/gcc.22141. Epub 2014 Jan 21.
3. Bixler GV, etal., BMC Med Genomics. 2011 May 15;4:40. doi: 10.1186/1755-8794-4-40.
4. Bongfen SE, etal., PLoS One. 2012;7(2):e31012. doi: 10.1371/journal.pone.0031012. Epub 2012 Feb 21.
5. Bunting KD, etal., Nat Med. 1998 Jan;4(1):58-64.
6. Degryse S, etal., Blood. 2014 Nov 13;124(20):3092-100. doi: 10.1182/blood-2014-04-566687. Epub 2014 Sep 5.
7. Elliott NE, etal., Blood. 2011 Oct 6;118(14):3911-21. doi: 10.1182/blood-2010-12-319467. Epub 2011 Aug 5.
8. Ge S, etal., Mol Med Rep. 2016 Mar;13(3):2561-9. doi: 10.3892/mmr.2016.4883. Epub 2016 Feb 8.
9. GOA_HUMAN data from the GO Consortium
10. Kim BH, etal., Br J Pharmacol. 2011 Sep;164(1):106-18. doi: 10.1111/j.1476-5381.2011.01353.x.
11. Kisseleva T, etal., Gene 2002 Feb 20;285(1-2):1-24.
12. Leahy TR, etal., Eur Respir J. 2016 Jan;47(1):212-22. doi: 10.1183/13993003.00642-2015. Epub 2015 Nov 5.
13. Macchi P, etal., Nature. 1995 Sep 7;377(6544):65-8.
14. Mahajan S, etal., J Pharmacol Exp Ther. 2015 May;353(2):405-14. doi: 10.1124/jpet.114.221176. Epub 2015 Mar 11.
15. Milici AJ, etal., Arthritis Res Ther. 2008;10(1):R14. doi: 10.1186/ar2365. Epub 2008 Jan 30.
16. Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9.
17. OMIM Disease Annotation Pipeline
18. Pipeline to import KEGG annotations from KEGG into RGD
19. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
20. Rane SG and Reddy EP, Oncogene 2002 May 13;21(21):3334-58.
21. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. RGD automated import pipeline for gene-chemical interactions
23. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
24. Ross JA, etal., Leukemia. 2014 Apr;28(4):941-4. doi: 10.1038/leu.2013.309. Epub 2013 Oct 23.
25. Saini MK, etal., Eur J Cancer Prev. 2013 May;22(3):215-28. doi: 10.1097/CEJ.0b013e3283584932.
26. Sakaguchi H, etal., Nat Genet. 2013 Aug;45(8):937-41. doi: 10.1038/ng.2698. Epub 2013 Jul 7.
27. Stepkowski SM, etal., Blood. 2002 Jan 15;99(2):680-9.
28. Uckun FM, etal., Blood. 2002 Jun 1;99(11):4192-9.
29. Walters DK, etal., Cancer Cell. 2006 Jul;10(1):65-75.
30. Wang GS, etal., Zhonghua Jie He He Hu Xi Za Zhi. 2003 Nov;26(11):664-7.
31. Xu W, etal., PLoS One. 2012;7(2):e31721. doi: 10.1371/journal.pone.0031721. Epub 2012 Feb 16.
32. Yin L, etal., J Neuroimmunol. 2014 Sep 15;274(1-2):28-37. doi: 10.1016/j.jneuroim.2014.06.022. Epub 2014 Jun 28.
Additional References at PubMed
PMID:7481768   PMID:7481769   PMID:7499365   PMID:7535338   PMID:7538655   PMID:7559633   PMID:7594533   PMID:7662955   PMID:7973658   PMID:7973659   PMID:8022485   PMID:8022486  
PMID:8022790   PMID:8493579   PMID:8662778   PMID:8921370   PMID:9045636   PMID:9047382   PMID:9133417   PMID:9133424   PMID:9168059   PMID:9182906   PMID:9226382   PMID:9354668  
PMID:9391116